Incidental Mutation 'R5773:Cmtm1'
| ID |
445511 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cmtm1
|
| Ensembl Gene |
ENSMUSG00000110430 |
| Gene Name |
CKLF-like MARVEL transmembrane domain containing 1 |
| Synonyms |
CKLFH1, CHLFH1a, Cklfsf1 |
| MMRRC Submission |
043372-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
R5773 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
105020174-105036777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105031808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 90
(F90I)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159039]
[ENSMUST00000160596]
[ENSMUST00000162616]
[ENSMUST00000164175]
|
| AlphaFold |
B7ZP21 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159039
AA Change: F191I
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124855
Gene: ENSMUSG00000110430
AA Change: F191I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
27 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
33 |
70 |
7.45e-12 |
PROSPERO |
|
internal_repeat_2
|
34 |
74 |
9.92e-7 |
PROSPERO |
|
internal_repeat_1
|
66 |
103 |
7.45e-12 |
PROSPERO |
|
internal_repeat_2
|
122 |
162 |
9.92e-7 |
PROSPERO |
|
transmembrane domain
|
190 |
212 |
N/A |
INTRINSIC |
|
transmembrane domain
|
227 |
246 |
N/A |
INTRINSIC |
|
transmembrane domain
|
253 |
275 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160365
AA Change: F90I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124414
Gene: ENSMUSG00000031876
AA Change: F90I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
89 |
111 |
N/A |
INTRINSIC |
|
transmembrane domain
|
126 |
145 |
N/A |
INTRINSIC |
|
transmembrane domain
|
152 |
174 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160596
AA Change: F279I
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124656
Gene: ENSMUSG00000110430
AA Change: F279I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
27 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
33 |
70 |
1.42e-11 |
PROSPERO |
|
internal_repeat_2
|
34 |
74 |
1.79e-6 |
PROSPERO |
|
internal_repeat_1
|
66 |
103 |
1.42e-11 |
PROSPERO |
|
internal_repeat_2
|
122 |
162 |
1.79e-6 |
PROSPERO |
|
transmembrane domain
|
262 |
284 |
N/A |
INTRINSIC |
|
transmembrane domain
|
289 |
311 |
N/A |
INTRINSIC |
|
transmembrane domain
|
315 |
334 |
N/A |
INTRINSIC |
|
transmembrane domain
|
341 |
363 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162616
AA Change: F279I
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124800
Gene: ENSMUSG00000031876
AA Change: F279I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
27 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
33 |
70 |
1.42e-11 |
PROSPERO |
|
internal_repeat_2
|
34 |
74 |
1.79e-6 |
PROSPERO |
|
internal_repeat_1
|
66 |
103 |
1.42e-11 |
PROSPERO |
|
internal_repeat_2
|
122 |
162 |
1.79e-6 |
PROSPERO |
|
transmembrane domain
|
262 |
284 |
N/A |
INTRINSIC |
|
transmembrane domain
|
289 |
311 |
N/A |
INTRINSIC |
|
transmembrane domain
|
315 |
334 |
N/A |
INTRINSIC |
|
transmembrane domain
|
341 |
363 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164175
|
| SMART Domains |
Protein: ENSMUSP00000132828
Gene: ENSMUSG00000110430
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
27 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
34 |
71 |
1.23e-5 |
PROSPERO |
|
internal_repeat_1
|
100 |
137 |
1.23e-5 |
PROSPERO |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
G |
A |
2: 155,416,614 (GRCm39) |
|
probably null |
Het |
| Akna |
C |
T |
4: 63,313,307 (GRCm39) |
S272N |
probably benign |
Het |
| Ap2m1 |
T |
C |
16: 20,362,140 (GRCm39) |
V416A |
probably damaging |
Het |
| Atp7b |
A |
G |
8: 22,517,879 (GRCm39) |
F320L |
probably benign |
Het |
| Brd1 |
T |
C |
15: 88,573,752 (GRCm39) |
K1116E |
probably benign |
Het |
| Ccdc186 |
T |
C |
19: 56,801,919 (GRCm39) |
D66G |
probably benign |
Het |
| Cdh4 |
A |
G |
2: 179,527,789 (GRCm39) |
Y503C |
probably damaging |
Het |
| Cfb |
C |
A |
17: 35,076,248 (GRCm39) |
E166* |
probably null |
Het |
| Col1a1 |
A |
T |
11: 94,830,255 (GRCm39) |
K160N |
probably benign |
Het |
| Cradd |
T |
C |
10: 95,011,823 (GRCm39) |
I106V |
probably benign |
Het |
| Defa17 |
A |
G |
8: 22,146,574 (GRCm39) |
R67G |
probably damaging |
Het |
| Dgkh |
T |
C |
14: 78,832,895 (GRCm39) |
N765S |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,033,507 (GRCm39) |
V954A |
possibly damaging |
Het |
| Eif2d |
A |
G |
1: 131,086,040 (GRCm39) |
|
probably null |
Het |
| Epg5 |
T |
A |
18: 78,004,040 (GRCm39) |
F683I |
probably damaging |
Het |
| Fhad1 |
T |
G |
4: 141,656,881 (GRCm39) |
K91T |
probably damaging |
Het |
| Fut11 |
A |
T |
14: 20,748,383 (GRCm39) |
D476V |
probably damaging |
Het |
| Gldn |
T |
C |
9: 54,241,775 (GRCm39) |
|
probably null |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Gm8674 |
T |
A |
13: 50,055,912 (GRCm39) |
|
noncoding transcript |
Het |
| Gtpbp6 |
C |
A |
5: 110,254,757 (GRCm39) |
E168D |
possibly damaging |
Het |
| Hinfp |
T |
A |
9: 44,210,533 (GRCm39) |
H163L |
probably benign |
Het |
| Igkv6-29 |
C |
A |
6: 70,115,584 (GRCm39) |
G70V |
possibly damaging |
Het |
| Ing3 |
T |
A |
6: 21,971,834 (GRCm39) |
C368S |
probably damaging |
Het |
| Itih1 |
A |
G |
14: 30,657,356 (GRCm39) |
V489A |
possibly damaging |
Het |
| Itsn2 |
T |
C |
12: 4,757,089 (GRCm39) |
L1393P |
probably damaging |
Het |
| Kcnj13 |
T |
C |
1: 87,314,389 (GRCm39) |
T278A |
probably damaging |
Het |
| Kntc1 |
G |
A |
5: 123,932,220 (GRCm39) |
R1338Q |
probably damaging |
Het |
| Lipi |
T |
A |
16: 75,370,813 (GRCm39) |
T135S |
probably damaging |
Het |
| Map7 |
A |
G |
10: 20,122,390 (GRCm39) |
K152R |
probably benign |
Het |
| Mmp24 |
A |
G |
2: 155,641,829 (GRCm39) |
Y219C |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,212,208 (GRCm39) |
V565A |
possibly damaging |
Het |
| Nup210 |
T |
C |
6: 91,062,865 (GRCm39) |
K265E |
probably damaging |
Het |
| Or10ak9 |
A |
G |
4: 118,726,718 (GRCm39) |
T247A |
probably damaging |
Het |
| Pcdha6 |
A |
T |
18: 37,102,643 (GRCm39) |
H612L |
probably benign |
Het |
| Pgpep1 |
G |
A |
8: 71,105,101 (GRCm39) |
T53M |
probably damaging |
Het |
| Pld2 |
G |
T |
11: 70,446,758 (GRCm39) |
S778I |
probably damaging |
Het |
| Ppef2 |
A |
C |
5: 92,398,420 (GRCm39) |
Y33D |
probably damaging |
Het |
| Ppfibp2 |
A |
T |
7: 107,285,079 (GRCm39) |
T129S |
possibly damaging |
Het |
| Prickle1 |
G |
T |
15: 93,406,478 (GRCm39) |
H182N |
probably damaging |
Het |
| R3hdm2 |
T |
A |
10: 127,280,172 (GRCm39) |
|
probably benign |
Het |
| Rbm12b1 |
A |
T |
4: 12,145,765 (GRCm39) |
E579V |
probably damaging |
Het |
| Rsf1 |
GGC |
GGCGGCGGCTGC |
7: 97,229,140 (GRCm39) |
|
probably benign |
Het |
| Slc1a6 |
T |
G |
10: 78,629,111 (GRCm39) |
|
probably null |
Het |
| Slc27a6 |
G |
T |
18: 58,715,245 (GRCm39) |
A283S |
probably damaging |
Het |
| Spats2l |
T |
A |
1: 57,918,708 (GRCm39) |
N27K |
possibly damaging |
Het |
| Srgap1 |
T |
C |
10: 121,732,614 (GRCm39) |
M155V |
probably benign |
Het |
| Stxbp5l |
C |
A |
16: 37,028,459 (GRCm39) |
A535S |
probably damaging |
Het |
| Svep1 |
C |
A |
4: 58,099,985 (GRCm39) |
C1353F |
possibly damaging |
Het |
| Taar4 |
T |
A |
10: 23,837,056 (GRCm39) |
I222N |
probably damaging |
Het |
| Tlr6 |
A |
G |
5: 65,111,846 (GRCm39) |
F354L |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,074,395 (GRCm39) |
S452P |
probably damaging |
Het |
| Ttll5 |
GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC |
G |
12: 85,980,329 (GRCm39) |
|
probably null |
Het |
| Usp42 |
A |
T |
5: 143,699,467 (GRCm39) |
M1264K |
probably benign |
Het |
| Zfp865 |
A |
T |
7: 5,037,693 (GRCm39) |
|
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,334,511 (GRCm39) |
L169Q |
probably damaging |
Het |
| Zmym4 |
A |
T |
4: 126,799,163 (GRCm39) |
N383K |
possibly damaging |
Het |
|
| Other mutations in Cmtm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Senilicus
|
UTSW |
8 |
105,035,927 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
G1citation:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
|
R2900:Cmtm1
|
UTSW |
8 |
105,036,176 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4132:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R4615:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R4723:Cmtm1
|
UTSW |
8 |
105,020,307 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5277:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R5347:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R5364:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R5394:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R5403:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R5611:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R5715:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R5731:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R6017:Cmtm1
|
UTSW |
8 |
105,037,583 (GRCm39) |
unclassified |
probably benign |
|
|
R6207:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R6313:Cmtm1
|
UTSW |
8 |
105,031,795 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6528:Cmtm1
|
UTSW |
8 |
105,035,927 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6817:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R6821:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
|
R6822:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
|
R7028:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R7128:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R7132:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R7816:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R7819:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
|
R7841:Cmtm1
|
UTSW |
8 |
105,036,108 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7963:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R7988:Cmtm1
|
UTSW |
8 |
105,036,774 (GRCm39) |
unclassified |
probably benign |
|
|
R8130:Cmtm1
|
UTSW |
8 |
105,036,088 (GRCm39) |
missense |
unknown |
|
|
R8152:Cmtm1
|
UTSW |
8 |
105,036,573 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8439:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R8459:Cmtm1
|
UTSW |
8 |
105,036,143 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8683:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
R8843:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
|
R8860:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
|
R8871:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
|
R9093:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
|
R9098:Cmtm1
|
UTSW |
8 |
105,036,334 (GRCm39) |
frame shift |
probably null |
|
|
R9528:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
RF041:Cmtm1
|
UTSW |
8 |
105,036,102 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAAGGCTTACTCTTGGGTTTATG -3'
(R):5'- GCACACGCACATGTATGCAC -3'
Sequencing Primer
(F):5'- ACTCTTGGGTTTATGGGCAAAGC -3'
(R):5'- CGCACATGTATGCACAAACAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation